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Description of Research:

Our research focuses on using and developing novel genomic and statistical methods to identify the genetic and environmental control points associated with childhood disease variation in the Quebec population as well as sub-saharan African cohorts. Our approaches uses next-generation data and make use of bioinformatic tools and pipelines that are applicable to studying both basic biological mechanisms such as mutation and recombination and problems of high clinical impact for diseases such as cancer and cardiovascular pathologies.

The McGill HPC Centre is used to store and manipulate next-generation sequencing data including RNASeq and Exom sequencing data.

Last year, some of our research activities lead us to provide the first evidence for gene-environment interactions in the transcriptome of malaria-infected children. Another milestone of our research is the generation and preliminary analysis of over 900 RNAseq profiles from the Quebec population as part of the Genome Quebec-funded CARTaGENE project. PI Philip Awadalla gave numerous talks about this work last year. He also received the 2012 Joe Doupe Young Investigator Award for this work. The results of this research have the potential to impact Canadians by using the genomic profiles of the CARTaGENE cohort to 1- characterize the genomic and gene expression map of the QC population that will be used to find biomarkers of cardiovascular disease of potential prognosis potential and 2- create a catalogue of rare variation in the QC population that can be used as a reference panel for other clinical research projects in the province.